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E.BarberR.NguyenG.FeiginV

The study included whole exome sequencing (WES) of a female child with SSMD, as well as both parents of a diagnosed child, described previously [12]

Expression of Pparg was unaltered in Nf1 Myf5 psWAT, as were mtCo1 and Cs (encoding Mitochondrial cytochrome c oxidase and Citrate synthase, respectively) as representatives of electron transport chain and TCA cycle (Supporting information, Figure S5B)